Epicanthus, and Broad nasal tip

High match SIX2-RELATED FRONTONASAL DYSPLASIA

SIX2-RELATED FRONTONASAL DYSPLASIA Is also known as six2-related fnd

• Global developmental delay
• Short stature
• Hypertelorism
• Ptosis
• Depressed nasal bridge

SOURCES: ORPHANET MENDELIAN

High match NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Microcephaly

SOURCES: OMIM MENDELIAN

High match FOCAL FACIAL DERMAL DYSPLASIA TYPE III

Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.

FOCAL FACIAL DERMAL DYSPLASIA TYPE III Is also known as focal facial dermal dysplasia 3, setleis type|setleis syndrome|ffdd type iii|ffdd3|brauer-setleis syndrome

• Global developmental delay
• Generalized hypotonia
• Nystagmus
• Micrognathia
• Strabismus

SOURCES: OMIM ORPHANET MENDELIAN

High match SHASHI-PENA SYNDROME; SHAPNS

Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016).

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Scoliosis

SOURCES: OMIM MENDELIAN

High match AL KAISSI SYNDROME; ALKAS

Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: OMIM MENDELIAN

High match HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS Is also known as glomerulonephritis with sparse hair and telangiectases|telangiectatic membranoproliferative glomerulonephritis

• Global developmental delay
• Abnormal facial shape
• Hypertension
• Epicanthus
• Wide nasal bridge

SOURCES: MESH OMIM MENDELIAN

High match SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: OMIM ORPHANET MENDELIAN

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57

MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: OMIM MENDELIAN

High match MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH

Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder affecting females and characterized by severe intellectual disability, microcephaly, and variable degrees of pontocerebellar hypoplasia. Affected individuals have very poor psychomotor development, often without independent ambulation or speech, and axial hypotonia with or without hypertonia. Some may have sensorineural hearing loss or eye anomalies. Dysmorphic features include overall poor growth, severe microcephaly (-3.5 to -10 SD), broad nasal bridge and tip, large ears, long philtrum, micrognathia, and hypertelorism (summary by Moog et al., 2011).

MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH Is also known as micpch syndrome|mrxsna|mental retardation, x-linked, syndromic, najm type

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: OMIM MENDELIAN

High match HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS

Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017).

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: OMIM MENDELIAN